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Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Curto FL, Mecucci C, Danesino C, Pasquali F. Maserati E, et al. Among authors: panarello c. Genes Chromosomes Cancer. 2006 Apr;45(4):375-82. doi: 10.1002/gcc.20301. Genes Chromosomes Cancer. 2006. PMID: 16382447
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498).
Maserati E, Panarello C, Morerio C, Valli R, Pressato B, Patitucci F, Tassano E, Di Cesare-Merlone A, Cugno C, Balduini CL, Lo Curto F, Dufour C, Locatelli F, Pasquali F. Maserati E, et al. Among authors: panarello c. Haematologica. 2008 Aug;93(8):1271-3. doi: 10.3324/haematol.12748. Epub 2008 Jun 2. Haematologica. 2008. PMID: 18519517 Free article. No abstract available.
36 results